Familial deletion 11q14.3-q22.1 without apparent phenotypic consequences: A haplosufficient 8.5 Mb region
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32511/fullpdf
Reference15 articles.
1. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants;Barber;J Med Genet,2005
2. Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants?;Bisgaard;Eur J Med genet,2007
3. Chromosome imbalance, normal phenotype, and imprinting;Bortotto;J Med Genet,1990
4. Hardware and software requirements for quantitative analysis of comparative genomic hybridization;du Manoir;Cytometry,1995
5. An unusual familial chromosome 9 “variant” with variable phenotype: Characterization by CGH analysis;Goumy;Morphologie,2005
Cited by 13 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature;Clinical Dysmorphology;2022-07-15
2. Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region;Cytogenetic and Genome Research;2020
3. A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype–phenotype correlation;Clinical Dysmorphology;2018-10
4. Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations;Birth Defects Research;2017-07-31
5. Unbalanced karyotype with X;11 translocation associated with SHOX duplication and 11q partial deletion in a girl with amenorrhea and mild mental retardation detected by array CGH: Case Report;Gene Reports;2016-09
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3